Gene

FH - fumarase deficiency, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 674

FH - fumarase deficiency, autosomal recessive



€ 674

FH - fumarase deficiency, autosomal recessive

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Fumarase deficiency

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hereditary cancer panel
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
  • Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
No enzyme analysis will be performed

OMIM: 136850
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 674